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P2 Receptor Antagonists Rescue Defective Heme Content in an In Vitro SLC25A38-Associated Congenital Sideroblastic Anemia Cell Model.
Int J Mol Sci
December 2024
Department of Biosciences, Biotechnology and Environment, University of Bari Aldo Moro, 70125 Bari, Italy.
Mutations in the SLC25A38 gene are responsible for the second most common form of congenital sideroblastic anemia (CSA), a severe condition for which no effective treatment exists. We developed and characterized a K562 erythroleukemia cell line with markedly reduced expression of the SLC25A38 protein (A38-low cells). This model successfully recapitulated the main features of CSA, including reduced heme content and mitochondrial respiration, increase in mitochondrial iron, ROS levels and sensitivity to oxidative stress.
View Article and Find Full Text PDFDevelopment and optimisation of the biosensor for aspartate aminotransferase blood level determination.
Anal Bioanal Chem
December 2024
Institute of Molecular Biology and Genetics of the National Academy of Sciences of Ukraine, Zabolotnogo Street 150, Kyiv, 03680, Ukraine.
This work presents the development and optimisation of an amperometric biosensor for determining aspartate aminotransferase (AST) activity in blood serum, using glutamate oxidase and platinum disc electrodes. AST is a key biomarker for diagnosing cardiovascular and liver diseases. The biosensor's bioselective membrane composition and formation protocol and the working solution (aspartate 8 mM, α-ketoglutarate 2 mM, pyridoxal-5-phosphate 100 µM) were optimised.
View Article and Find Full Text PDFLate-onset drug-resistant epilepsy in pyridoxamine 5'-phosphate oxidase deficiency: a case report.
J Med Case Rep
November 2024
Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.
Background: Pyridoxamine 5'-phosphate oxidase deficiency is a rare inborn error of vitamin B metabolism that presents with drug-resistant epileptic seizures. However, the condition is responsive to supplementation with the active vitamin B metabolite pyridoxal 5'-phosphate and, in some cases, pyridoxine.
Case Presentation: In this case report, a 10-year-old Iranian male of Fars ethnicity came to a regional hospital in Tehran, Iran with a chief complaint of tic-like movement.
Serum Pyridoxal 5'-Phosphate and Pyridoxic Acid Ratio Index with Prognosis of Colorectal Cancer: A Prospective Cohort Study.
Nutrients
October 2024
Department of Epidemiology, School of Public Health, Sun Yat-sen University, Guangzhou 510080, China.
Background: Studies on the association between serum vitamin B status and colorectal cancer prognosis are limited and have yielded inconsistent results. This study investigated the association of pyridoxal 5'-phosphate (PLP) and pyridoxic acid ratio (PAr) index with colorectal cancer survival.
Methods: A total of 1286 colorectal cancer patients diagnosed since 2010 were selected from the Guangdong Colorectal Cancer Cohort study.
Exploring multi-omics and clinical characteristics linked to accelerated biological aging in Asian women of reproductive age: insights from the S-PRESTO study.
Genome Med
November 2024
Institute for Human Development and Potential, Agency for Science, Technology and Research (A*STAR), Singapore, Singapore.
Background: Phenotypic age (PhenoAge), a widely used marker of biological aging, has been shown to be a robust predictor of all-cause mortality and morbidity in different populations. Existing studies on biological aging have primarily focused on individual domains, resulting in a lack of a comprehensive understanding of the multi-systemic dysregulation that occurs in aging.
Methods: PhenoAge was evaluated based on a linear combination of chronological age (CA) and 9 clinical biomarkers in 952 multi-ethnic Asian women of reproductive age.
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